Table 1.

Summary of the filtering to narrow down the candidates for the causal variant

Criteria for the filtering	Number of remaining variants
Coding variants	19, 215
Not in dbSNP130	2, 015
Not in eight HapMap exomes [12]	1, 833
Not in in-house data of a healthy Japanese individual	1, 336
Functional (missense, nonsense, frameshift and splice site)	592
In run-of-homozygosity regions	35 (in 33 genes)

The filtering was performed using the listed criteria in descending order.